Canonical Allele Identifier: CA335051

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 201651
• ClinVar RCV Id: RCV000183279 ; RCV000472395
• dbSNP Id: rs199920384
• ExAC: 1:236925912 A / G
• gnomAD v2: 1-236925912-A-G
• gnomAD v3: 1-236762612-A-G
• gnomAD v4: 1-236762612-A-G
• MyVariant Identifiers: chr1:g.236925912A>G (hg19) ; chr1:g.236762612A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762612A>G , CM000663.2:g.236762612A>G	GRCh38
NC_000001.10:g.236925912A>G , CM000663.1:g.236925912A>G	GRCh37
NC_000001.9:g.234992535A>G	NCBI36
NG_009081.1:g.81143A>G
NG_009081.2:g.103472A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2678A>G	ENSP00000443495.1:p.Asp893Gly
ENST00000461367.2:n.974A>G
ENST00000492634.7:n.2608A>G
ENST00000682015.1:c.2585A>G	ENSP00000506961.1:p.Asp862Gly
ENST00000682490.1:n.596A>G
ENST00000682692.1:n.3773A>G
ENST00000682966.1:n.8319A>G
ENST00000683111.1:c.*1964A>G	ENSP00000507913.1:n.*1964A>G
ENST00000683322.1:n.4030A>G
ENST00000683805.1:n.1469A>G
ENST00000684050.1:n.5316A>G
ENST00000684122.1:n.2112A>G
ENST00000684286.1:n.4233A>G
ENST00000684502.1:n.3975A>G
ENST00000684763.1:n.1293A>G
ENST00000366578.6:c.2678A>G MANE Select	ENSP00000355537.4:p.Asp893Gly
ENST00000492634.6:n.2608A>G
ENST00000542672.6:c.2678A>G	ENSP00000443495.1:p.Asp893Gly
ENST00000651275.1:c.2570A>G	ENSP00000498926.1:p.Asp857Gly
ENST00000651781.1:c.1758A>G
ENST00000651786.1:c.*2050A>G	ENSP00000498364.1:n.*2050A>G
ENST00000652096.1:c.*2083A>G	ENSP00000498896.1:n.*2083A>G
ENST00000366578.5:c.2678A>G	ENSP00000355537.4:p.Asp893Gly
ENST00000542672.5:c.2678A>G	ENSP00000443495.1:p.Asp893Gly
ENST00000546208.5:c.2054A>G	ENSP00000438384.2:p.Asp685Gly
NM_001103.3:c.2678A>G	NP_001094.1:p.Asp893Gly
NM_001278343.1:c.2678A>G	NP_001265272.1:p.Asp893Gly
NM_001278344.1:c.2054A>G	NP_001265273.1:p.Asp685Gly
NM_001278343.2:c.2678A>G	NP_001265272.1:p.Asp893Gly
NM_001103.4:c.2678A>G MANE Select	NP_001094.1:p.Asp893Gly
NM_001278344.2:c.2054A>G	NP_001265273.1:p.Asp685Gly